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Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
Ichthyosis vulgaris (also known as "autosomal dominant ichthyosis" [1] and "Ichthyosis simplex" [1]) is a skin disorder causing dry, scaly skin.It is the most common form, and one of the mildest forms, of ichthyosis, [2] [3]: 486 affecting around 1 in 250 people. [4]
A child with Harlequin-type ichthyosis.Visible plates on the skin, as well as a change in the appearance of the ears and fingers,which are symptoms of Harlequin-type ichthyosis.
The appearance can be caused by several skin diseases, and it is most often not associated with other birth defects. [2] In most cases, the baby develops an ichthyosis or ichthyosis-like condition or other rare skin disorder.
X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. [2]
Ichthyosis bullosa of Siemens is an autosomal dominant genetic condition caused by a mutation in the gene for keratin 2e on chromosome 12. [4] [7] [8] [9]: 563 This means an affected person has a 50% chance of passing the condition on to their child.
Most cases are X-linked recessive but there may be as many as three types. As well as a classical X-linked form, there is another type where females are partially affected and another where females have full IFAP symptoms.
HID syndrome is also known as ichthyosis hystrix, Rheydt type after the German city of Rheydt near Düsseldorf where it was first discovered. Symptoms are bilateral hearing loss and spiky hyperkeratotic masses which cover the whole body though the palms and soles are less badly affected.